Global Variome shared LOVD

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Phenotype #0000308319 Individual ID 00416599 Associated disease - Phenotype details best corrected visual acuity right / left eye: 0.8 / 0.8; visual field, I-4e: 50 (4-23); full-field electroretinogram amplitude (uV), rod: 32, cone: 33; Goldmann-Weeker's dark adaptation, elevation of rod final threshold in log units: 2.1; Farnsworth D-15 colour vision test: no defect Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 64y (64 years) Age/Diagnosis - Age/Onset 30y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-05 18:40:22 +02:00 (CEST) Date last edited N/A

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